Your search for returned 25 results

Order by:
Show per page
In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • First Published July 20, 2021
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • First Published August 23, 2018
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
RESOURCE

An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)

  • First Published June 24, 2008
Methods

Accurate and reliable high-throughput detection of copy number variation in the human genome

  • First Published November 22, 2006
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

On the probability that a novel variant is a disease-causing mutation

  • First Published June 17, 2005
Show per page